This article is more than 5 years old. Information may no longer be current.
Odd physical findings and a curious pediatrician
A discussion of four unique cases and their resulting diagnoses.
Click Here to Manage Email Alerts
During my 35 years in pediatric practice, I have examined an average of 7,500 children annually. I have encountered at least 30 children who had unusual physical findings. To date, I have published 16 case reports describing some of these findings in medical journals. This month’s column is a potpourri of four of these case reports. Perhaps recollection of one or more of these findings will help you become more aware of the need for following through on, and even publishing, unusual physical findings.
Case 1: Unilateral ‘tonsil’
During a routine evaluation in the hospital nursery, I noted an infant with an unusual mass in the right tonsillar fossa. Knowing that tonsils should not be visible in a newborn, I asked for a curbside consultation from a hospital neonatologist, who shared my concern about the finding.
A computed tomography examination revealed that the mass was solid and not connected to anything else. The mass was biopsied. The histologist’s report noted the presence of heterotopic brain tissue containing mature neural elements and neurogical elements. A pediatric neurosurgeon excised the mass without complication.
Heterotopic brain tissue is a functionless, vestigial remnant of neural tissue believed to result from early displacement of pluripotential cells. It can be located in the nasal cavity, the nasopharynx, on the exterior of the face or in the oropharynx, eye or lung. It can be solid or cystic and may or may not be connected to the brain by a thin stalk (my patient had an isolated lesion).
I have often wondered what might have happened if the mass had gone unrecognized. The child may have grown up and had one too many cases of “tonsillitis.” At this point, an otolaryngologist, after supposedly performing a routine tonsillectomy, would have received a pathology report stating that the specimen was normal brain tissue. Any unusual tissue mass in the nose or nasopharynx should be imaged carefully and examined for connections to the brain. The differential diagnosis of heterotopia of brain tissue includes lymphangioma (cystic hygroma), hemangioma, glioma, encephalocele, meningocele, teratoma, hamartoma, rhabdomyosarcoma, dermoid cyst and brachial cleft cyst.
Case 2: Notched or cleft uvula
During my first decade in practice, I noted many children with various degrees of midline uvula defect. The defects ranged from a simple indentation to notching to partial clefting to total bifid uvula. During one year, I kept records of consecutive children of all ages who had any midline uvula defect; 44 children were noted to have isolated midline uvula defects. These patients comprised about 3% of all the children I examined that year.
I learned that Robert Shprintzen, PhD, of Shprintzen syndrome (velocardiofacial syndrome) fame, was interested in this minor anomaly. He informed me that if I could identify at least eight children with midline uvula defects and secure signed parental consent for video endoscopy, he would visit our office along with his team, consisting of a craniofacial plastic surgeon and a speech pathologist. The team subsequently made three such visits to examine 24 children.
During each visit, Shprintzen took a detailed history, performed an intraoral examination and did a videoendoscopy of the child’s nasopharynx, paying particular attention to the dorsal aspect of the soft palate, the presence or absence of the midline musculus uvulae and the location of the Eustachian tube orifice.
Traditionally, a triad of physical findings provides diagnostic clues that suggest the presence of a submucous cleft of the soft palate. Those findings are bifid uvula, diastases of the midline of the soft palate with a thin blue line called the zona pellucida, absence of the sharp, spine-like posterior border of the hard palate and presence of a midline notching. With the assistance of Shprintzen’s team, we ultimately demonstrated that about 85% of the children whom we had originally brought to his attention had signs of submucous cleft palate, particularly absence of the midline musculus uvulae.
We concluded that primary care pediatricians who provide clearance for patients being scheduled to undergo adenoidectomy, tonsillectomy and adenoidectomy, or myringotomy and tympanostomy tubes should carefully note the morphology of the uvula. Should even a minor degree of notching or clefting be present, an otolaryngologist must be alerted to this finding prior to the adenoidectomy.
Submucous defects of the secondary palate do not always lead to velopharyngeal insufficiency, even following total adenoidectomy; on occasion, however, the removal of the adenoid pad creates an incompetent velopharyngeal sphincter, causing temporary or permanent cleft rhinolalia (palate-like speech). Surgical repair of acquired velopharyngeal sphincter with rhinolalia secondary to adenoidectomy requires the creation of a pharyngeal flap.
The primary care pediatrician who cleared such a child for surgery, as well as the otolaryngologist, may be a target of malpractice litigation for failure to diagnose should a child develop velopharyngeal insufficiency and hypernasal speech.
Case 3: Blood oozing from nipple after compression
The mother of a 16-month-old boy stated that she noticed bright red blood coming from the child’s right nipple when she inadvertently compressed the area while drying him after a bath. She noted the blood several times, always after gentle compression of the breast tissue. During the physical examination, I confirmed that the presence of guaiac-positive, bright red blood oozing from the nipple during gentle, sustained compression of the breast tissue.
An internet search quickly revealed a possible explanation for the bizarre phenomenon. I learned that an unusual condition known as mammary duct ectasia is the most frequent cause of painless blood oozing from a child’s nipple. It is diagnosed by ultrasound imaging of the breasts.
An ultrasound was performed, and mammary duct ectasia was indeed found in this patient. The condition resolves spontaneously after a few months, and no treatment is needed other than reassurance — an alarming, unusual physical finding with a happy outcome.
Case 4: 7-year-old twin girls with underarm odor
At the time of a routine physical examination, the mother of 7-year-old twin girls stated that her daughter had adult-type underarm odor that was resistant to daily baths and deodorant. A brief “whiff test” confirmed the mother’s description. Careful physical examination revealed that the child was Tanner stage I; she had no secondary sexual changes, the clitoris appeared normal and she had no axillary or pubic hair.
Several months later, the twin sibling developed a similar axillary malodor. Laboratory evaluation for precocious puberty gave normal values for age. Abdominal and pelvic ultrasound examinations of both girls for gonadal tumors were also negative.
Our initial recommendation, twice-daily bathing and use of deodorant soap and underarm deodorant, was not effective. Recalling that axillary odor (axillary bromhidrosis) was the result of apocrine secretions that were then metabolically degraded to fatty acids by anaerobic Corynybacterium and Staphylococcus epidermidis, I gave the mother a few samples of 1% topical clindamycin solution and instructed her to apply it to the girls’ axillary area. The underarm odor quickly vanished.
An online search of the medical literature using the keywords “prepubescent axillary bromhidrosis” and similar terms did not locate a single article on the subject. In fact, several sources stated with certainty that the condition cannot exist in normal prepubescent children because the apocrine sweat glands do not develop until puberty. A quick check with several experienced pediatricians confirmed, however, that such children do exist.
Vigilance during periodic health check-ups and sick visits can sometimes uncover subtle and unusual physical findings that are not well described in the pediatric literature. Performing a diligent literature search and authoring a short case report about such experiences are educational and gratifying in such cases. Involving a motivated and eager pediatric resident or medical student to co-author the case report is even more rewarding. I have done this with the two of the four cases described here. I invite your participation in this endeavor.
For more information:
- Feldman BA, Schwartz RH, Chandra R, et al. Heterotopic brain tissue simulating a neonatal tonsil. Clin Pediatr (Phila). 1982;21:428-430.
- Hafsa S, Schwartz RH. Two 6-year-old twin girls with primary axillary bromhidrosis: Discussion, differential diagnosis and management options. Clin Pediatr (Phila). 2007; In press.
- Marina MB, Zurin AR, Muhaizan WM, et al. Heterotopic neuroglial tissue presenting as oral cavity mass with intracranial extension. Int J Pediatr Otorhinolaryngol. 2005;69:1587-1590.
- Schwartz RH, Hayden GF, Rodriquez WJ, et al. The bifid uvula: Is it a marker for an otitis-prone child? Laryngoscope. 1985;95:1100-1102.
- Schwartz RH, Windreich R, Weaver A. Painless bloody nipple discharge in a 16-month old infant. Clin Pediatr (Phila). 2006;45:859-860.
- Shprintzen RJ, Schwartz RH, Daniller A, Hoch L. Morphologic significance of bifid uvula. Pediatrics 1985;75:553-561.
- Wharton P, Mowrer DE. Prevalence of cleft uvula among school children in kindergarten through grade five. Cleft Palate Craniofac J. 1992;29:10-14.